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Journal of Pediatric Neurology, ISSN 1304-2580, 06/2008, Volume 6, Issue 2, pp. 191 - 194
Abstract We report a 3-year-old girl with characteristic clinical, electroencephalographic and neuroradiological features of Rett syndrome (RS) – an X-linked... 
Case Report | Stereotypic hand movements | Rett syndrome | Brain | Cerebral palsy | Birth weight | Down syndrome | Females | Patients
Journal Article
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
Neuropediatrics, ISSN 0174-304X, 02/2018, Volume 49, Issue 1, pp. 072 - 075
Abstract Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels,... 
Short Communication | polycythemia | hypotonia | hypermanganesemia | SCL30A10 | MANGANESE TRANSPORTER | PARKINSONISM | TOXICITY | DYSTONIA | DEFICIENCY | CLINICAL NEUROLOGY | DISORDER | PEDIATRICS | ACCUMULATION | HEPATIC CIRRHOSIS | BRAIN | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 457 - 466
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, p. 521
The American Journal of Human Genetics 90, 457–466; March 9, 2012) In this article, Figure 1 contained an error regarding the position of the deletion detected... 
Journal Article
Case reports in hematology, ISSN 2090-6560, 2013, Volume 2013, pp. 841057 - 5
We report a 9-year-old boy with acute lymphoblastic leukemia (ALL) in high-risk group who suffered from left sided focal seizures and ipsilateral hemiparesis... 
Case Report
Journal Article
Clinical Pediatrics, ISSN 0009-9228, 12/2010, Volume 49, Issue 12, p. 1160
  Cerebral calcification has been associated with many clinical disorders including sporadic and heredofamilial entities. Hypoparathyroidism, an endocrine... 
Convulsions & seizures | Hypothyroidism | Endocrinology | Neurological disorders
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, p. 457
Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn... 
Yeast | Genomics | Manganese compounds | Mutation | Gene expression | Liver cirrhosis | Neurological disorders
Journal Article
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